Variant report

Variant	rs4342545
Chromosome Location	chr7:48395032-48395033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11972317	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973519	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11983883	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1368653	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1433517	0.90[ASN][1000 genomes]
rs1433518	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1433519	0.90[ASN][1000 genomes]
rs1526093	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17132278	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17132286	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17132295	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17172282	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17661752	0.83[ASN][1000 genomes]
rs17661898	0.89[ASN][1000 genomes]
rs17712791	0.90[ASN][1000 genomes]
rs1830106	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1880739	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2117090	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2117091	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34996049	0.90[ASN][1000 genomes]
rs4145714	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4145715	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4437599	0.90[ASN][1000 genomes]
rs55869793	0.89[ASN][1000 genomes]
rs61532297	0.90[ASN][1000 genomes]
rs62449219	0.81[ASN][1000 genomes]
rs6583405	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66509041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67631839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6946995	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6955132	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6958878	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6966454	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6974064	0.83[ASN][1000 genomes]
rs73097197	0.88[ASN][1000 genomes]
rs73097201	0.91[ASN][1000 genomes]
rs73099309	0.90[ASN][1000 genomes]
rs73099311	0.90[ASN][1000 genomes]
rs73099316	0.89[ASN][1000 genomes]
rs73099324	0.87[ASN][1000 genomes]
rs7780112	0.90[ASN][1000 genomes]
rs7784325	0.89[ASN][1000 genomes]
rs7795985	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7803797	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1032135	chr7:48293104-48414154	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1032221	chr7:48302789-48546684	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv533811	chr7:48313757-48482470	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1015399	chr7:48321542-48544359	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv5733	chr7:48387046-48434029	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
13	esv2600887	chr7:48391260-48402663	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
14	esv2314060	chr7:48391542-48402059	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
15	esv3477209	chr7:48391568-48402044	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
16	esv3477210	chr7:48391568-48402044	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
17	nsv499496	chr7:48391722-48401876	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
18	nsv514415	chr7:48391758-48401622	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
19	esv2623647	chr7:48392167-48402994	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
20	nsv521082	chr7:48392514-48396976	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	inside rSNPs	diseases
21	nsv442041	chr7:48392771-48401303	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48392600-48395400	Strong transcription	Primary hematopoietic stem cells	blood
2	chr7:48392800-48400600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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